E-LIB Suche - Ergebnisse für: de Burca, A.

1

OC11.07: The diagnostic yield provided by prenatal‐exome se..:

Stocker, L. J. ; de Burca, A. ; Brown, G..
Ultrasound in Obstetrics & Gynecology. 62 (2023) S1 - p. 27-27 , 2023

Link: https://doi.org/10.1002/..

2

EP11.19: Prenatal ultrasound features of COQ9 deficiency:

Stocker, L. J. ; Hearson, L. ; de Burca, A..
Ultrasound in Obstetrics & Gynecology. 62 (2023) S1 - p. 161-162 , 2023

Link: https://doi.org/10.1002/..

3

Assessing the digenic model in rare disorders using populat..:

Moreno-Ruiz, Nerea ; Ambrose, J. C. ; Arumugam, P....
European Journal of Human Genetics. 30 (2022) 12 - p. 1439-1443 , 2022

Link: https://doi.org/10.1038/..

4

Genotype–phenotype correlations for COL4A3–COL4A5 variants ..:

Gibson, Joel T. ; Huang, Mary ; Shenelli Croos Dabrera, Marina...
Scientific Reports. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

5

Identification of 4 novel human ocular coloboma genes ANK3,..:

Owen, Nicholas ; Toms, Maria ; Young, Rodrigo M....
Genetics in Medicine. 24 (2022) 5 - p. 1073-1084 , 2022

Link: https://doi.org/10.1016/..

6

Pathogenicity of missense variants affecting the collagen I..:

Gibson, Joel T. ; Sadeghi-Alavijeh, Omid ; Gale, Daniel P....
Scientific Reports. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

7

Heterozygous lamin B1 and lamin B2 variants cause primary m..:

Parry, David A. ; Martin, Carol-Anne ; Greene, Philip...
Genetics in Medicine. 23 (2021) 2 - p. 408-414 , 2021

Link: https://doi.org/10.1038/..

8

Author Correction: Nuclear-mitochondrial DNA segments resem..:

Wei, Wei ; Pagnamenta, Alistair T. ; Gleadall, Nicholas...
Nature Communications. 11 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

9

Nuclear-mitochondrial DNA segments resemble paternally inhe..:

Wei, Wei ; Pagnamenta, Alistair T. ; Gleadall, Nicholas...
Nature Communications. 11 (2020) 1 - p. , 2020

Link: https://doi.org/10.1038/..

10

DYNC2H1 hypomorphic or retina-predominant variants cause no..:

Vig, Anjali ; Poulter, James A. ; Ottaviani, Daniele...
Genetics in Medicine. 22 (2020) 12 - p. 2041-2051 , 2020

Link: https://doi.org/10.1038/..

11

Mutational signature in colorectal cancer caused by genotox..:

Pleguezuelos-Manzano, Cayetano ; Puschhof, Jens ; Rosendahl Huber, Axel...
Nature. 580 (2020) 7802 - p. 269-273 , 2020

Link: https://doi.org/10.1038/..

12

Circular polarization of synchrotron radiation in high magn..:

de Búrca, D. ; Shearer, A.
Monthly Notices of the Royal Astronomical Society. 450 (2015) 1 - p. 533-540 , 2015

Link: https://doi.org/10.1093/..

13

Inverse mapping of polarized optical emission from pulsars:..:

Mc Donald, J. ; O' Connor, P. ; de Burca, D...
Monthly Notices of the Royal Astronomical Society. 417 (2011) 1 - p. 730-744 , 2011

Link: https://doi.org/10.1111/..

14

P1649 Determination of antibiotic breakpoints using a novel..:

Mann, T. ; Hammarstrom, O. ; Burca, D....
International Journal of Antimicrobial Agents. 29 (2007) - p. S465-S466 , 2007

Link: https://doi.org/10.1016/..

15

Synthesis and Spectroscopic Study of New 1H-1-Alkyl-6-methy..:

Burcă, Ion ; Badea, Valentin ; Bercean, Vasile-Nicolae.
Molbank. 2024 (2024) 2 - p. M1815 , 2024

Link: https://doi.org/10.3390/..